Format

Send to

Choose Destination
Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Author information

1
Danish Epilepsy Center, Dianalund, Denmark.
2
Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
3
Department of Neuropediatrics, Herlev Hospital, Herlev, Denmark.
4
Neurology Unit and Neurogenetic Laboratories, Meyer Children's Hospital, Florence, Italy.
5
Department of Neuropediatrics, Odense University Hospital Denmark, Odense, Denmark.
6
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
7
Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
8
Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
9
INSERM U 1127, The National Scientific Research Center UMR7225, University of Pierre and Marie Curie (Paris 6) UMR 1127, The Brain and Spinal Institute, University of Sorbonne, Paris, France.
10
Department of Pediatrics, Holbaek Hospital, Holbaek, Denmark.
11
Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
12
Pediatric Neurology Clinic, Rigshospitalet, Copenhagen, Denmark.
13
Institute of Pediatric Neurology and Muscular Diseases, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infant Science, Institute of G. Gaslini, University of Genova, Genova, Italy.
14
Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova, Italy.
15
Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, United Kingdom.
16
Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.
17
Department of Cellular and Molecular Medicine, Johannsen Center for Functional Genome Research, University of Copenhagen, Wilhelm Copenhagen, Denmark.
18
Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
19
Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.

Abstract

The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). Our study aimed to investigate the possible role of SLC2A1 in various forms of epilepsy including MAE and absence epilepsy with early onset. We also aimed to estimate the frequency of GLUT1 deficiency syndrome in the Danish population. One hundred twenty patients with MAE, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (ID), and/or various movement disorders were screened for mutations in SLC2A1. Mutations in SLC2A1 were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. However, our study failed to support the notion that SLC2A1 aberrations are a cause of MAE without associated features such as movement disorders.

KEYWORDS:

Childhood neurology; Epilepsy genetics; Glucose transporter 1 deficiency syndrome

Comment in

PMID:
26537434
DOI:
10.1111/epi.13222
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center